L10M (p.Leu10Met) variant of COL6A1 (Collagen alpha-1(VI) chain)
L10M (p.Leu10Met) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L10M (p.Leu10Met) variant details
- p.Leu10Met
- gnomAD 21-45981878-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.32
- MetaLR 0.60
- MetaSVM -0.06
- CADD 22.70
- PolyPhen-2 0.80
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available